Cockayne syndrome: review of 25 cases.

abstract：BACKGROUND:Acute encephalitis and encephalopathy are life-threatening diseases in children. However, no laboratory examinations are performed for their early diagnosis and treatment. Alpha 2-macroglobulin (α2M) is a blood glycoprotein that increases during the early stages of inflammation. In the present study, we inve...

journal_title：Pediatric neurology

authors： Suzuki Y,Hashimoto K,Hoshi K,Ito H,Kariya Y,Miyazaki K,Sato M,Kawasaki Y,Yoshida M,Honda T,Hashimoto Y,Hosoya M

更新日期：2019-09-01 00:00:00

abstract：:A boy diagnosed as having glycogenosis type II at three years of age, underwent a sural nerve biopsy at the age of seven years. The distribution of the diameters of myelinated nerve fibers did not clearly demonstrate a bimodal pattern. However, larger fibers of 8 microns or more in diameter were more abundant. This fi...

journal_title：Pediatric neurology

authors： Origuchi Y,Itai Y,Matsumoto S,Matsuishi T

更新日期：1986-11-01 00:00:00

abstract：:Adenylosuccinate lyase (ASL) deficiency is a defect in purine de novo synthesis pathway. The disease has variable clinical presentation involving psychomotor retardation, seizures, hypotonia, and autism. The presence of succinyladenosine and succinylaminoimidazole carboxamide riboside (SAICA riboside) in body fluids c...

journal_title：Pediatric neurology

authors： Valik D,Miner PT,Jones JD

更新日期：1997-04-01 00:00:00

abstract：:A 6-year-old girl (Patient 1) and a 5-year-old boy (Patient 2) with acute disseminated encephalomyelitis after Japanese B encephalitis vaccination are reported. Drowsiness, paresthesias, and gait disturbance were observed at 14 days (Patient 1) and 17 days (Patient 2) after the vaccination; however, transient impairme...

journal_title：Pediatric neurology

authors： Ohtaki E,Murakami Y,Komori H,Yamashita Y,Matsuishi T

更新日期：1992-03-01 00:00:00

abstract：:Continuous electroencephalographic monitoring often detects nonconvulsive seizures in critically ill children, but it is resource-intense and has not been demonstrated to improve outcomes. As institutions develop clinical pathways for monitoring, they should consider how seemingly minor variations may exert substantia...

journal_title：Pediatric neurology

authors： Gutierrez-Colina AM,Topjian AA,Dlugos DJ,Abend NS

更新日期：2012-03-01 00:00:00

abstract：:Visual evoked potentials (VEPs) were recorded in 32 children (ages 4 months to 5 years) who were clinically diagnosed as being cortically blind. None of the children had visual or neurologic abnormalities prior to the precipitating insult which included surgery (N = 15), trauma (N = 3), infectious disease (N = 5), hyp...

journal_title：Pediatric neurology

authors： Taylor MJ,McCulloch DL

更新日期：1991-03-01 00:00:00

abstract：:Perinatal stroke is presented as the ideal human model of developmental neuroplasticity. The precise timing, mechanisms, and locations of specific perinatal stroke diseases provide common examples of well defined, focal, perinatal brain injuries. Motor disability (hemiparetic cerebral palsy) constitutes the primary ad...

journal_title：Pediatric neurology

authors： Kirton A

更新日期：2013-02-01 00:00:00

abstract：:A 4-year-old female was hospitalized with clinical and electroencephalographic evidence of acute encephalopathy. Five days later the classic signs of Kawasaki disease appeared. The neurologic outcome in this female was poor despite early treatment with immunoglobulin. Like many other vasculitidies, Kawasaki disease ca...

journal_title：Pediatric neurology

authors： Tabarki B,Mahdhaoui A,Selmi H,Yacoub M,Essoussi AS

更新日期：2001-09-01 00:00:00

abstract：:The present report concerns a vertically human immunodeficiency virus type 1 (HIV-1)-infected 7-year-old child, in whom a neurodegenerative disease occurred after an acute neurologic disorder that was in all likelihood symptomatic of HIV-1 encephalitis. At the steady state the neurologic disease fulfilled the accepted...

journal_title：Pediatric neurology

authors： Angelini L,Zibordi F,Triulzi F,Pinzani R,Plebani A

更新日期：1999-04-01 00:00:00

abstract：:Fenfluramine therapy has been reported to improve behavior in infantile autism and has been associated with a decrease in abnormally increased blood serotonin content. The primary central effect has not been proved to be serotonergic. Beta-endorphin is involved in the anorexic effect of fenfluramine and may play a rol...

journal_title：Pediatric neurology

authors： Ross DL,Klykylo WM,Hitzemann R

更新日期：1987-03-01 00:00:00

abstract：BACKGROUND:Acute dyskinetic or dystonic reactions are a long-recognized complication of medications that alter dopamine signaling. Most reactions occur following exposure to agents that block dopamine receptors (e.g., neuroleptics). However, agents that increase dopaminergic transmission (such as methylphenidate) can a...

journal_title：Pediatric neurology

authors： Waugh JL

更新日期：2013-07-01 00:00:00

abstract：:Spasticity is one of the most common symptoms presented by neurologic patients. Apart from surgical management, drug therapy is an important treatment of children suffering from spasticity. In this review, recent advances in the pharmacologic armamentarium are reported in detail. In particular, there are oral medicati...

journal_title：Pediatric neurology

authors： Verrotti A,Greco R,Spalice A,Chiarelli F,Iannetti P

更新日期：2006-01-01 00:00:00

abstract：:The somatosensory evoked potentials from the lower extremities were measured postoperatively in 15 patients with biliary atresia to investigate whether they were free of neurologic dysfunction. Because long-standing cholestasis causes progressive neuropathy due to malabsorption of vitamin E, the serum vitamin E, D, an...

journal_title：Pediatric neurology

authors： Kubota M,Suita S,Kamimura T,Shono K

更新日期：1997-04-01 00:00:00

abstract：BACKGROUND:Comorbidities including hearing impairment occur commonly in individuals with cerebral palsy (CP). METHODS:Hearing impairment was assessed in a registry-derived population-based sample of children with CP. RESULTS:Hearing impairment was documented in 12.7% (27 of 212) with less than a quarter of these (or ...

journal_title：Pediatric neurology

authors： Dufresne D,Dagenais L,Shevell MI,REPACQ Consortium.

更新日期：2014-11-01 00:00:00

abstract：:Eye movements were assessed in 22 patients with varying degrees of hypoxanthine-guanine phosphoribosyltransferase deficiency. Ocular motility was clinically normal in seven patients with moderate enzyme deficiency but grossly abnormal in 15 patients with severe enzyme deficiency. In patients with severe deficiency, fi...

journal_title：Pediatric neurology

authors： Jinnah HA,Lewis RF,Visser JE,Eddey GE,Barabas G,Harris JC

更新日期：2001-03-01 00:00:00

abstract：:The most effective method for the screening and monitoring of optic pathway gliomas in children with neurofibromatosis type 1 remains a dilemma. Children less than 6 years of age are the group at highest risk for the development of optic pathway gliomas. Although an annual ophthalmologic examination currently is recom...

journal_title：Pediatric neurology

authors： Ng YT,North KN

更新日期：2001-01-01 00:00:00

abstract：:The Fontan operation is one of the most common cardiac operations for children with congenital heart disease beyond the first year of age. Although the surgical mortality of this procedure has improved over the past 2 decades, the neurologic outcome in this population is not well described. We performed a retrospectiv...

journal_title：Pediatric neurology

authors： du Plessis AJ,Chang AC,Wessel DL,Lock JE,Wernovsky G,Newburger JW,Mayer JE Jr

更新日期：1995-04-01 00:00:00

abstract：:We used two strategies to investigate a possible link between predisposition for epilepsy and mutations in the fragile X mental retardation-1 gene. The first entailed performing electroencephalography on 14 patients with an amplification in the fragile X mental retardation-1 gene, and the second involved molecular gen...

journal_title：Pediatric neurology

authors： Kluger G,Böhm I,Laub MC,Waldenmaier C

更新日期：1996-11-01 00:00:00

abstract：:According to increasing evidence, hypothermia can significantly improve outcomes in term neonates manifesting asphyxic insult and hypoxic-ischemic encephalopathy. Oxidative stress plays a key role in hypoxic-ischemic and inflammatory brain injuries. We investigated the impact of hypothermia on oxidative stress in babi...

journal_title：Pediatric neurology

authors： Perrone S,Szabó M,Bellieni CV,Longini M,Bangó M,Kelen D,Treszl A,Negro S,Tataranno ML,Buonocore G

更新日期：2010-10-01 00:00:00

abstract：:Normal development of the central nervous system depends on complex, dynamic mechanisms with multiple spatial and temporal components during gestation. Neurodevelopmental disorders may originate during fetal life from genetic as well as intrauterine and extrauterine factors that affect the fetal-maternal environment. ...

journal_title：Pediatric neurology

authors： Connors SL,Levitt P,Matthews SG,Slotkin TA,Johnston MV,Kinney HC,Johnson WG,Dailey RM,Zimmerman AW

更新日期：2008-03-01 00:00:00

abstract：:Sturge-Weber syndrome without facial nevus is rare. Twenty-four cases were previously reported. Although hypomelanosis of Ito is a relatively common disorder, there was only one previous case in association with Sturge-Weber syndrome. We describe an 11-year-old boy with Sturge-Weber syndrome without facial nevus, coex...

journal_title：Pediatric neurology

authors： Değerliyurt A,Kantar A,Ceylaner S,Aysun S

更新日期：2009-05-01 00:00:00

abstract：:Alagille syndrome is associated with various ocular abnormalities, including pseudopapilledema or optic disk edema due to increased intracranial pressure. Several mechanisms have been proposed to explain the mechanism of intracranial hypertension in Alagille syndrome. Craniosynostosis is an unusual but significant cau...

journal_title：Pediatric neurology

authors： Yilmaz S,Turhan T,Mutluer S,Aydogdu S

更新日期：2013-02-01 00:00:00

abstract：:Evaluation of a 7-month-old girl with developmental delay and intractable seizures revealed hemispheric asymmetry and an enlarged right cerebral hemisphere. Because of a history of seizures refractory to medical therapy, she was admitted for right hemispherectomy, but died of complications of surgery. Postmortem brain...

journal_title：Pediatric neurology

authors： Jahan R,Mischel PS,Curran JG,Peacock WJ,Shields DW,Vinters HV

更新日期：1997-11-01 00:00:00

abstract：:Sturge-Weber syndrome is a rare disorder that occurs with a frequency of approximately 1 per 50,000. The disease is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. Facial cutaneous vascular malformations, seizures, and gla...

journal_title：Pediatric neurology

authors： Thomas-Sohl KA,Vaslow DF,Maria BL

更新日期：2004-05-01 00:00:00

abstract：BACKGROUND:Ketamine has recently emerged as a promising therapeutic alternative for abortive migraine therapy, likely secondary to N-methyl-d-aspartate antagonism. Most reports examine adults and the intravenous route. Fewer utilize intranasal administration or pediatric populations. Given the limited evidence for intr...

journal_title：Pediatric neurology

authors： Turner AL,Shandley S,Miller E,Perry MS,Ryals B

更新日期：2020-03-01 00:00:00

abstract：:An 8-year-old boy was diagnosed with autism, along with development delay, seizures, and hypoplastic corpus callosum. His karyotype was 47, XY, +mar.ish (15) (D15Z1+, SNRPN+, GABRB3+, PML-(de novo?). The supernumerary marker chromosome 15 with euchromatin was monosatellited and monocentric. Although autism, seizures, ...

journal_title：Pediatric neurology

authors： Jovanović-Privrodski JD,Kavecan II,Obrenović MR,Buonadonna LA,Bukvić NM

更新日期：2009-07-01 00:00:00

abstract：:Mean rectal temperatures in neonates were investigated during sleep state transitions as assessed by visually analyzed electroencephalographic-polygraphic recordings. Continuous 3-hour studies were obtained on 3 term and 5 preterm infants at postconceptional term ages using a 24-channel computerized monitoring system....

journal_title：Pediatric neurology

authors： Scher MS,Dokianakis SG,Sun M,Steppe DA,Guthrie RD,Sclabassi RJ

更新日期：1994-05-01 00:00:00

abstract：:Two visually impaired children with occipital infarctions are presented. One patient has profound impairment of his primary visual pathway but has good vision for traveling, while the other child presented with the symptoms in reverse. We believe that these two patients provide further evidence that the primary visual...

journal_title：Pediatric neurology

authors： Jan JE,Wong PK,Groenveld M,Flodmark O,Hoyt CS

更新日期：1986-11-01 00:00:00

abstract：BACKGROUND:The juvenile form of GM1 gangliosidosis lacks specific physical findings and thus is often a diagnostic challenge for clinicians. T2 hypodensity in the globus pallidus is a characteristic radiographic sign of neurodegeneration with iron accumulation in the brain that is observed in GM1 gangliosidosis, but th...

journal_title：Pediatric neurology

authors： Takenouchi T,Kosaki R,Nakabayashi K,Hata K,Takahashi T,Kosaki K

更新日期：2015-02-01 00:00:00

abstract：:Miller-Dieker syndrome (MDS) is a prototype of brain malformations characterized by abnormal neuronal migration. To clarify the pathomechanisms underlying these anomalies, we performed immunohistochemical studies using specific antibodies against the protein product of LIS-1, the candidate gene responsible for the MDS...

journal_title：Pediatric neurology

authors： Isumi H,Takashima S,Kakita A,Yamada M,Ikeda K,Mizuguchi M

更新日期：1997-01-01 00:00:00